Cargando…
First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis
We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and...
Autores principales: | AbdulWahab, Atqah, AlNaimi, Amal, Habra, Basel, Janahi, Ibrahim |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
HBKU Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314207/ https://www.ncbi.nlm.nih.gov/pubmed/34377682 http://dx.doi.org/10.5339/qmj.2021.24 |
Ejemplares similares
-
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
por: Petrova, Nika V., et al.
Publicado: (2022) -
Case Report of a Successful Pregnancy in a Cystic Fibrosis Patient with The c.1521_1523delCTT/c.3718-2477C>t Genotypes
por: Spasova, VL, et al.
Publicado: (2021) -
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess
por: Zahraldin, Khalid, et al.
Publicado: (2015) -
Decoding F508del Misfolding in Cystic Fibrosis
por: Wang, Xiaodong Robert, et al.
Publicado: (2014) -
Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis
por: Esposito, Speranza, et al.
Publicado: (2016)